Výsledky vyhledávání - Sandrine Marlin

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  1. 1
    Antigenic variants of herpes simplex virus selected with glycoprotein-specific monoclonal antibodies

    Antigenic variants of herpes simplex virus selected with glycoprotein-specific monoclonal antibodies Autor T C Holland, Sandrine Marlin, Michael Levine, Joseph C. Glorioso

    Vydáno 1983
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  2. 2
    A form of circulating ICAM-1 in human serum.

    A form of circulating ICAM-1 in human serum. Autor Robert Rothlein, Elizabeth A. Mainolfi, Michele Czajkowski, Sandrine Marlin

    Vydáno 1991
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  3. 3
    LFA-1 immunodeficiency disease. Definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells.

    LFA-1 immunodeficiency disease. Definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by compl... Autor Sandrine Marlin, Cynthia C. Morton, D C Anderson, T. Springer

    Vydáno 1986
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  4. 4
    Herpes simplex virus type 1 glycoprotein C-negative mutants exhibit multiple phenotypes, including secretion of truncated glycoproteins

    Herpes simplex virus type 1 glycoprotein C-negative mutants exhibit multiple phenotypes, including secretion of truncated glycoproteins Autor T C Holland, Fred L. Homa, Sandrine Marlin, Michael Levine, Joseph C. Glorioso

    Vydáno 1984
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  5. 5
    Cooperative interactions of LFA-1 and Mac-1 with intercellular adhesion molecule-1 in facilitating adherence and transendothelial migration of human neutrophils in vitro.

    Cooperative interactions of LFA-1 and Mac-1 with intercellular adhesion molecule-1 in facilitating adherence and transendothelial migration of human neutrophils in vitro. Autor C. Wayne Smith, Sandrine Marlin, Robert Rothlein, Carol Toman, D. C. Anderson

    Vydáno 1989
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  6. 6
    Review and update of mutations causing Waardenburg syndrome

    Review and update of mutations causing Waardenburg syndrome Autor Véronique Pingault, D. Ente, Florence Dastot‐Le Moal, Michel Goossens, Sandrine Marlin, Nadège Bondurand

    Vydáno 2010
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  7. 7
    Induction of intercellular adhesion molecule 1 on primary and continuous cell lines by pro-inflammatory cytokines. Regulation by pharmacologic agents and neutralizing antibodies.

    Induction of intercellular adhesion molecule 1 on primary and continuous cell lines by pro-inflammatory cytokines. Regulation by pharmacologic agents and neutralizing antibodies. Autor Robert Rothlein, Michele Czajkowski, Maeve O'Neill, Sandrine Marlin, Elizabeth A. Mainolfi, V J Merluzzi

    Vydáno 1988
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  8. 8
    Physical mapping of the mutation in an antigenic variant of herpes simplex virus type 1 by use of an immunoreactive plaque assay

    Physical mapping of the mutation in an antigenic variant of herpes simplex virus type 1 by use of an immunoreactive plaque assay Autor T C Holland, Rozanne M. Sandri-Goldin, L E Holland, Sandrine Marlin, Michael Levine, Joseph C. Glorioso

    Vydáno 1983
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  9. 9
    KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness

    KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness Autor Christian Kubisch, Björn C. Schroeder, Thomas Friedrich, Björn Lütjohann, A. Amraoui, Sandrine Marlin, Christine Petit, Thomas J. Jentsch

    Vydáno 1999
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  10. 10
    Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

    Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations Autor Pauline Krug, Vincent Morinière, Sandrine Marlin, Valérie Koubi, Heinz Gabriel, Estelle Colin, Dominique Bonneau, Rémi Salomon, Corinne Antignac, Laurence Heidet

    Vydáno 2010
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  11. 11
    Loss‐of‐function and residual channel activity of connexin26 mutations associated with non‐syndromic deafness

    Loss‐of‐function and residual channel activity of connexin26 mutations associated with non‐syndromic deafness Autor Roberto Bruzzone, Valentina Veronesi, D. Gomès, Massimiliano Bicego, Nathalie Duval, Sandrine Marlin, Christine Petit, Paola D’Andrea, Thomas W. White

    Vydáno 2002
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  12. 12
    Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and<i>SOX10</i>Mutations

    Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and<i>SOX10</i>Mutations Autor Monique Elmaleh, Clarisse Baumann, N. Noël‐Pétroff, A. Sekkal, V. Couloigner, Koenraad Devriendt, Meredith Wilson, Sandrine Marlin, G. Sebag, Véronique Pingault

    Vydáno 2012
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  13. 13
    Evaluation of Cytomegalovirus (CMV) DNA Quantification in Dried Blood Spots: Retrospective Study of CMV Congenital Infection

    Evaluation of Cytomegalovirus (CMV) DNA Quantification in Dried Blood Spots: Retrospective Study of CMV Congenital Infection Autor Christelle Vauloup‐Fellous, Aurélie Ducroux, V. Couloigner, Sandrine Marlin, Olivier Picone, Julie Galimand, Natalie Loundon, Françoise Denoyelle, L. Grangeot‐Keros, Marianne Leruez‐Ville

    Vydáno 2007
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  14. 14
    Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

    Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome Autor Séverine Bacrot, Mathilde Doyard, Céline Huber, Olivier Alibeu, Niklas Feldhahn, Daphné Lehalle, Didier Lacombe, Sandrine Marlin, Patrick Nitschké, Florence Petit, Marie‐Paule Vazquez, Arnold Münnich, Valérie Cormier‐Daire

    Vydáno 2014
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  15. 15
    The <scp>CD</scp>2 isoform of protocadherin‐15 is an essential component of the tip‐link complex in mature auditory hair cells

    The <scp>CD</scp>2 isoform of protocadherin‐15 is an essential component of the tip‐link complex in mature auditory hair cells Autor Elise Pepermans, Vincent Michel, Richard J. Goodyear, Crystel Bonnet, Samia Abdi, Typhaine Dupont, Souad Gherbi, Muriel Holder, Mohamed Makrelouf, Jean‐Pierre Hardelin, Sandrine Marlin, Akila Zenati, Guy P. Richardson, Paul Avan, Amel Bahloul, Christine Petit

    Vydáno 2014
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  16. 16
    Mutations in <i>NALP12</i> cause hereditary periodic fever syndromes

    Mutations in <i>NALP12</i> cause hereditary periodic fever syndromes Autor Isabelle Jéru, Philippe Duquesnoy, Teresa Fernandes‐Alnemri, Emmanuelle Cochet, Je‐Wook Yu, Marilyn Lackmy-Port-Lis, E. Grimprel, Judith Landman‐Parker, Véronique Hentgen, Sandrine Marlin, Ken McElreavey, Tamara Sarkisian, Gilles Grateau, Emad S. Alnemri, Serge Amselem

    Vydáno 2008
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  17. 17
    An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

    An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature Autor Justine Lerat, Laurence Jonard, Natalie Loundon, Sophie Christin‐Maître, Didier Lacombe, Cyril Goizet, Cécile Rouzier, Lionel Van Maldergem, Souad Gherbi, Éréa-Noël Garabédian, Jean‐Paul Bonnefont, Philippe Touraine, Isabelle Mösnier, Arnold Münnich, Françoise Denoyelle, Sandrine Marlin

    Vydáno 2016
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  18. 18
    Dopachrome tautomerase variants in patients with oculocutaneous albinism

    Dopachrome tautomerase variants in patients with oculocutaneous albinism Autor Perrine Pennamen, Angèle Tingaud‐Sequeira, Iveta Gažová, Margaret Keighren, Lisa McKie, Sandrine Marlin, Souad Gherbi Halem, Josseline Kaplan, Cédric Delevoye, Didier Lacombe, Claudio Plaisant, Vincent Michaud, Eulalie Lasseaux, Sophie Javerzat, Ian J. Jackson, Benoı̂t Arveiler

    Vydáno 2020
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  19. 19
    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 Autor Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attié‐Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Echaieb Anis, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Véronique Pingault

    Vydáno 2007
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  20. 20
    Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

    Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness Autor Véronique Pingault, Virginie Bodereau, Viviane Baral, Séverine Marcos, Yuli Watanabe, Asma Chaoui, Corinne Fouveaut, Chrystel Leroy, O. Vérier‐Mine, Christine Francannet, Delphine Dupin‐Deguine, F. Archambeaud, François-Joseph Kurtz, Jacques Young, Jérôme Bertherat, Sandrine Marlin, Michel Goossens, Jean‐Pierre Hardelin, Catherine Dodé, Nadège Bondurand

    Vydáno 2013
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